Klinefelter syndrome, male with more than two X chromosomes

This diagnosis code identifies Klinefelter syndrome in males specifically characterized by the presence of more than two X chromosomes, such as 48,XXXY or 49,XXXXY. These variants typically present with more severe intellectual disability and congenital anomalies compared to the classic 47,XXY presentation.

Assign this code when medical record documentation clearly specifies Klinefelter syndrome with a karyotype indicating three or more X chromosomes in a male. Supporting documentation includes genetic testing results (karyotype analysis) confirming the specific chromosomal abnormality.

• Ensure the documentation explicitly states "more than two X chromosomes" or provides a specific karyotype like 48,XXXY.
• Do not confuse with classic Klinefelter syndrome (47,XXY) which is coded differently.
• Sequence this code as a primary diagnosis when it is the reason for the encounter, or as a secondary diagnosis when managing associated conditions.